A novel SPINK5 donor splice site variant in a child with Netherton syndrome

ConclusionThe 2015+5G>A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documentedSPINK5 pathogenic variants and discuss possible genotype –phenotype associations in NS.

Source: Molecular Genetics & Genomic Medicine - February 4, 2021 Category: Genetics & Stem Cells Authors: Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer Tags: CLINICAL REPORT Source Type: research